Monozygotic twins discordant for schizophrenia differ in maturation and synaptic transmission.

Schizophrenia affects approximately 1% of the world population. Genetics, epigenetics, and environmental factors are known to play a role in this psychiatric disorder. While there is a high concordance in monozygotic twins, about half of twin pairs are discordant for schizophrenia. To address the question of how and when concordance in monozygotic twins occur, we have obtained fibroblasts from two pairs of schizophrenia discordant twins (one sibling with schizophrenia while the second one is unaffected by schizophrenia) and three pairs of healthy twins (both of the siblings are healthy). We have prepared iPSC models for these 3 groups of patients with schizophrenia, unaffected co-twins, and the healthy twins. When the study started the co-twins were considered healthy and unaffected but both the co-twins were later diagnosed with a depressive disorder. The reprogrammed iPSCs were differentiated into hippocampal neurons to measure the neurophysiological abnormalities in the patients. We found that the neurons derived from the schizophrenia patients were less arborized, were hypoexcitable with immature spike features, and exhibited a significant reduction in synaptic activity with dysregulation in synapse-related genes. Interestingly, the neurons derived from the co-twin siblings who did not have schizophrenia formed another distinct group that was different from the neurons in the group of the affected twin siblings but also different from the neurons in the group of the control twins. Importantly, their synaptic activity was not affected. Our measurements that were obtained from schizophrenia patients and their monozygotic twin and compared also to control healthy twins point to hippocampal synaptic deficits as a central mechanism in schizophrenia.

Cepstral Measures in the Fado Voice: Gender, Age and Phonatory Tasks.

Cepstral measures are sensitive to gender, age and phonatory tasks. With a cepstral measure designated as the CPP, it was possible to confirm the vulnerability of the Fado singers' voice. These were established at the vocal pathological threshold, which suggests a need for a direct clinical approach for these voice users. OBJECTIVES/HYPOTHESIS: This study aimed to characterize cepstral peak prominence (CPP) and cepstral peak prominence smoothed (CPPS) in the Fado singing voice and to determine if there were significant differences in CPP and CPPS measures between spoken and sung tasks, as well as due to singers' gender and age. METHODS: Forty seven males and 57 females Fado singers, ranging from 18 to 70 years participated in this study. Spoken voice tasks were sustained [a] and reading aloud the phonetically balanced text "O Sol". Sung tasks were sustained [a] of the word [ɐfinaÉ«] and the Fado chorus song "Nem às paredes confesso". Acoustic measures included CPP and CPPS. CPP was measured using Analyses of Dysphonia in Speech and Voice software, of Multi-Speech program, Model 3700, by KayPENTAX. CPPS was measured using Praat software (4.2.1/2003). Statistical analysis was performed with an IBM SPSS Statistics version 22 program. CPP and CPPS mean differences of spoken and sung tasks were analyzed using paired samples t-test, with α at .05. RESULTS: CPP and CPPS values of singers' voice changed according to the gender, age and phonatory tasks. There were significant differences between CPP and CPPS measures (P < 0.05). Generally, young male singers, in their sung task, presented the highest CPP and CPPS values. The highest CPP mean was obtained by older males in sustained spoken [a] and the lowest was obtained by younger males in their reading aloud task. For CPPS, the highest mean value was obtained by younger males during sung [a] and the lowest was by younger males in the reading aloud task. CONCLUSION: Males presented higher cepstral measures than females. Young singers presented higher cepstral measures than older. Sung tasks had higher cepstral measures than spoken tasks. CPPS means are overall higher than CPP means. This study reinforces the need for a clinical prevention approach directed at potential vocal disorders in Fado singers.

Human-specific regulation of neural maturation identified by cross-primate transcriptomics.

Unique aspects of human behavior are often attributed to differences in the relative size and organization of the human brain: these structural aspects originate during early development. Recent studies indicate that human neurodevelopment is considerably slower than that in other nonhuman primates, a finding that is termed neoteny. One aspect of neoteny is the slow onset of action potentials. However, which molecular mechanisms play a role in this process remain unclear. To examine the evolutionary constraints on the rate of neuronal maturation, we have generated transcriptional data tracking five time points, from the neural progenitor state to 8-week-old neurons, in primates spanning the catarrhine lineage, including Macaca mulatta, Gorilla gorilla, Pan paniscus, Pan troglodytes, and Homo sapiens. Despite finding an overall similarity of many transcriptional signatures, species-specific and clade-specific distinctions were observed. Among the genes that exhibited human-specific regulation, we identified a key pioneer transcription factor, GATA3, that was uniquely upregulated in humans during the neuronal maturation process. We further examined the regulatory nature of GATA3 in human cells and observed that downregulation quickened the speed of developing spontaneous action potentials, thereby modulating the human neotenic phenotype. These results provide evidence for the divergence of gene regulation as a key molecular mechanism underlying human neoteny.

Práticas de investigação do Terapeuta da Fala em Portugal: Necessidades, barreiras e facilitadores / Research practices of the Speech-Language Pathologist in Portugal: Needs, barriers and facilitators / Prácticas de investigación del Fonoaudiólogo en Portugal: necesidades, barreras y facilitadores

Introdução: A necessidade e o interesse na investigação pelos Terapeutas da Fala (TFs) tem sido crescente. Objetivos: (i) caracterizar o nível de autonomia atual dos TFs em Portugal em investigação científica; (ii) caracterizar o nível de autonomia desejado dos TFs em Portugal em investigação científica; (iii) caracterizar as necessidades de formação assim como identificar as barreiras e facilitadores de práticas de investigação dos TFs em Portugal. Métodos: 86 TFs preencheram um questionário validado por um painel de peritos. A recolha de dados incidiu sobre: (i) nível de autonomia atual e desejado para a prática de investigação; (ii) barreiras e facilitadores inerentes à prática da investigação. Resultados: Os níveis de autonomia foram significativamente inferiores aos níveis desejados (p<0,001). A autonomia atual para a tarefa de criação de uma ideia de investigação foi significativamente inferior quando comparada com as tarefas de definição de metodologia (p<0,05), análise de dados (p<0,001), processamento de dados (p<0,001) e síntese de resultados (p<0,001). Não houve diferenças de autonomia entre a tarefa de comunicação em conferências e a tarefa de criação de uma ideia de investigação (p<0,05). A maioria reportou a necessidade de formação adicional para conseguir integrar a investigação na sua prática clínica. A principal barreira para a realização de investigação foi a ausência de tempo (64,5%). O principal facilitador foi o tempo disponível (27,7%). Conclusão: Os TFs possuem o desejo de maior autonomia no processo de investigação. A identificação de barreiras e facilitadores encontrados poderão permitir uma resposta mais adequada às capacidades e necessidades dos TFs.

Introduction: Speech-language pathologists' (SLPs) research needs and interests have been increasing over the years. Objectives: (i) characterize the SLPs' current research autonomy level in Portugal; (ii) characterize the SLPs' desired research autonomy level in Portugal; (iii) characterize the SLP's training needs as well as identify barriers and facilitators of the research practice in Portugal. Methods: 86 SLPs completed a questionnaire validated by a panel of experts. The data collection focused on: (i) current and desired research practice autonomy level; (ii) barriers and facilitators inherent to the research practice. Results: The current research autonomy levels were significantly lower than the desired levels (p<0.001). The current autonomy level of conceptualizing a research idea was significantly lower when compared to several tasks, such as defining methodology (p<0.05), data analysis (p<0.001), data processing (p<0.001) and results synthesis (p<0.001). There was no difference in autonomy between a conference communication task and research idea conceptualization task (p>0.05). Most of SLPs reported the need for additional training in order to integrate research into their clinical practice. The main barrier to conducting research was the lack of time (64.5%). The main facilitator suggested was increasing the available time (27.7%). Conclusion: SLPs have the desire to have greater autonomy in the research process. The identification of barriers and facilitators may allow a more adequate response to the research competences and needs of SLPs.

Introducción: La necesidad e interés en la investigación de los Fonoaudiólogos (FAs) está yendo en aumento. Objetivos: caracterizar: (i) el nivel actual de autonomía de los FAs en la investigación científica tomando Portugal como referencia; (ii) el nivel deseado de autonomía de los FAs en Portugal en la investigación científica; (iii) las necesidades de formación, así como barreras y facilitadores de las prácticas de investigación de los FAs en Portugal. Métodos: 86 FAs completaron un cuestionario validado por un panel de expertos. La recopilación de datos se centró en: (i) el nivel de autonomía actual y deseado para la práctica de la investigación; (ii) barreras y facilitadores de la práctica de la investigación. Resultados: Los niveles de autonomía fueron significativamente más bajos que los niveles deseados (p<0,001). La autonomía actual para crear/idear investigación fue significativamente menor en comparación con la de definición de métodos (p<0,05), análisis de datos (p<0,001), procesamiento de datos (p<0,001) y síntesis de resultados (p<0,001). No se encontraron diferencias en la autonomía entre la comunicación en conferencias y crear/idear investigación (p<0,05). La mayoría de FAs informó sobre la necesidad de formación adicional para integrar la investigación en su práctica. La principal barrera investigar fue la falta de tiempo (64,5%). El principal facilitador fue el tiempo disponible (27,7%). Conclusión: los FAs desean más autonomía en la investigación. Las barreras y facilitadores identificadas pueden permitir una respuesta más adecuada a las capacidades y necesidades de los FAs.

Altered Neuronal Support and Inflammatory Response in Bipolar Disorder Patient-Derived Astrocytes.

Bipolar disorder (BD) is characterized by cyclical mood shifts. Studies indicate that BD patients have a peripheral pro-inflammatory state and alterations in glial populations in the brain. We utilized an in vitro model to study inflammation-related phenotypes of astrocytes derived from induced pluripotent stem cells (iPSCs) generated from BD patients and healthy controls. BD astrocytes showed changes in transcriptome and induced a reduction in neuronal activity when co-cultured with neurons. IL-1ß-stimulated BD astrocytes displayed a unique inflammatory gene expression signature and increased secretion of IL-6. Conditioned medium from stimulated BD astrocytes reduced neuronal activity, and this effect was partially blocked by IL-6 inactivating antibody. Our results suggest that BD astrocytes are functionally less supportive of neuronal excitability and this effect is partially mediated by IL-6. We confirmed higher IL-6 in blood in a distinct cohort of BD patients, highlighting the potential role of astrocyte-mediated inflammatory signaling in BD neuropathology.

Deficient LEF1 expression is associated with lithium resistance and hyperexcitability in neurons derived from bipolar disorder patients.

Bipolar disorder (BD) is a psychiatric condition characterized by depressive and manic episodes that affect 2% of the world population. The first-line long-term treatment for mood stabilization is lithium (Li). Induced pluripotent stem cell modeling of BD using hippocampal dentate gyrus-like neurons derived from Li-responsive (LR) and Li-non-responsive (NR) patients previously showed neuronal hyperexcitability. Li treatment reversed hyperexcitability only on the LR neurons. In this study we searched for specific targets of Li resistance in NR neurons and found that the activity of Wnt/ß-catenin signaling pathway was severely affected, with a significant decrease in expression of LEF1. Li targets the Wnt/ß-catenin signaling pathway by inhibiting GSK-3ß and releasing ß-catenin that forms a nuclear complex with TCF/LEF1, activating the Wnt/ß-catenin transcription program. Therefore, we propose that downregulation of LEF1 may account for Li resistance in NR neurons. Our results show that valproic acid (VPA), a drug used to treat NR patients that also acts downstream of GSK-3ß, upregulated LEF1 and Wnt/ß-catenin gene targets, increased transcriptional activity of complex ß-catenin/TCF/LEF1, and reduced excitability in NR neurons. In addition, decreasing LEF1 expression in control neurons using shLEF1 caused hyperexcitability, confirming that the impact of VPA on excitability in NR neurons was connected to changes in LEF1 and in the Wnt/ß-catenin pathway. Our results suggest that LEF1 may be a useful target for the discovery of new drugs for BD treatment.

Inositol monophosphatase 1 (IMPA1) mutation in intellectual disability patients impairs neurogenesis but not gliogenesis.

A homozygous mutation in the inositol monophosphatase 1 (IMPA1) gene was recently identified in nine individuals with severe intellectual disability (ID) and disruptive behavior. These individuals belong to the same family from Northeastern Brazil, which has 28 consanguineous marriages and 59 genotyped family members. IMPA1 is responsible for the generation of free inositol from de novo biosynthesis and recycling from inositol polyphosphates and participates in the phosphatidylinositol signaling pathway. To understand the role of IMPA1 deficiency in ID, we generated induced pluripotent stem cells (iPSCs) from patients and neurotypical controls and differentiated these into hippocampal dentate gyrus-like neurons and astrocytes. IMPA1-deficient neuronal progenitor cells (NPCs) revealed substantial deficits in proliferation and neurogenic potential. At low passage NPCs (P1 to P3), we observed cell cycle arrest, apoptosis, progressive change to a glial morphology and reduction in neuronal differentiation. These observations were validated by rescuing the phenotype with myo-inositol supplemented media during differentiation of patient-derived iPSCs into neurons and by the reduction of neurogenic potential in control NPCs-expressing shIMPA1. Transcriptome analysis showed that NPCs and neurons derived from ID patients have extensive deregulation of gene expression affecting pathways necessary for neurogenesis and upregulation of gliogenic genes. IMPA1 deficiency did not affect cell cycle progression or survival in iPSCs and glial progenitor cells or astrocyte differentiation. Therefore, this study shows that the IMPA1 mutation specifically affects NPC survival and neuronal differentiation.

IGF-1 treatment causes unique transcriptional response in neurons from individuals with idiopathic autism.

BACKGROUND: Research evidence accumulated in the past years in both rodent and human models for autism spectrum disorders (ASD) have established insulin-like growth factor 1 (IGF-1) as one of the most promising ASD therapeutic interventions to date. ASD is phenotypically and etiologically heterogeneous, making it challenging to uncover the underlying genetic and cellular pathophysiology of the condition; and to efficiently design drugs with widespread clinical benefits. While IGF-1 effects have been comprehensively studied in the literature, how IGF-1 activity may lead to therapeutic recovery in the ASD context is still largely unknown. METHODS: In this study, we used a previously characterized neuronal population derived from induced pluripotent stem cells (iPSC) from neurotypical controls and idiopathic ASD individuals to study the transcriptional signature of acutely and chronically IGF-1-treated cells. RESULTS: We present a comprehensive list of differentially regulated genes and molecular interactions resulting from IGF-1 exposure in developing neurons from controls and ASD individuals. Our results indicate that IGF-1 treatment has a different impact on neurons from ASD patients compared to controls. Response to IGF-1 treatment in neurons derived from ASD patients was heterogeneous and correlated with IGF-1 receptor expression, indicating that IGF-1 response may have responder and non-responder distinctions across cohorts of ASD patients. Our results suggest that caution should be used when predicting the effect of IGF-1 treatment on ASD patients using neurotypical controls. Instead, IGF-1 response should be studied in the context of ASD patients' neural cells. LIMITATIONS: The limitation of our study is that our cohort of eight sporadic ASD individuals is comorbid with macrocephaly in childhood. Future studies will address weather downstream transcriptional response of IGF-1 is comparable in non-macrocephalic ASD cohorts. CONCLUSIONS: The results presented in this study provide an important resource for researchers in the ASD field and underscore the necessity of using ASD patient lines to explore ASD neuronal-specific responses to drugs such as IGF-1. This study further helps to identify candidate pathways and targets for effective clinical intervention and may help to inform clinical trials in the future.

A Physiological Instability Displayed in Hippocampal Neurons Derived From Lithium-Nonresponsive Bipolar Disorder Patients.

BACKGROUND: We recently reported a hyperexcitability phenotype displayed in dentate gyrus granule neurons derived from patients with bipolar disorder (BD) as well as a hyperexcitability that appeared only in CA3 pyramidal hippocampal neurons that were derived from patients with BD who responded to lithium treatment (lithium responders) and not in CA3 pyramidal hippocampal neurons that were derived from patients with BD who did not respond to lithium (nonresponders). METHODS: Here we used our measurements of currents in neurons derived from 4 control subjects, 3 patients with BD who were lithium responders, and 3 patients with BD who were nonresponders. We changed the conductances of simulated dentate gyrus and CA3 hippocampal neurons according to our measurements to derive a numerical simulation for BD neurons. RESULTS: The computationally simulated BD dentate gyrus neurons had a hyperexcitability phenotype similar to the experimental results. Only the simulated BD CA3 neurons derived from lithium responder patients were hyperexcitable. Interestingly, our computational model captured a physiological instability intrinsic to hippocampal neurons that were derived from nonresponder patients that we also observed when re-examining our experimental results. This instability was caused by a drastic reduction in the sodium current, accompanied by an increase in the amplitude of several potassium currents. These baseline alterations caused nonresponder BD hippocampal neurons to drastically shift their excitability with small changes to their sodium currents, alternating between hyperexcitable and hypoexcitable states. CONCLUSIONS: Our computational model of BD hippocampal neurons that was based on our measurements reproduced the experimental phenotypes of hyperexcitability and physiological instability. We hypothesize that the physiological instability phenotype strongly contributes to affective lability in patients with BD.

Mechanisms Underlying the Hyperexcitability of CA3 and Dentate Gyrus Hippocampal Neurons Derived From Patients With Bipolar Disorder.

BACKGROUND: Approximately 1 in every 50 to 100 people is affected with bipolar disorder (BD), making this disease a major economic burden. The introduction of induced pluripotent stem cell methodology enabled better modeling of this disorder. METHODS: Having previously studied the phenotype of dentate gyrus granule neurons, we turned our attention to studying the phenotype of CA3 hippocampal pyramidal neurons of 6 patients with BD compared with 4 control individuals. We used patch clamp and quantitative polymerase chain reaction to measure electrophysiological features and RNA expression by specific channel genes. RESULTS: We found that BD CA3 neurons were hyperexcitable only when they were derived from patients who responded to lithium; they featured sustained activity with large current injections and a large, fast after-hyperpolarization, similar to what we previously reported in dentate gyrus neurons. The higher amplitudes and faster kinetics of fast potassium currents correlated with this hyperexcitability. Further supporting the involvement of potassium currents, we observed an overexpression of KCNC1 and KCNC2 in hippocampal neurons derived from lithium responders. Applying specific potassium channel blockers diminished the hyperexcitability. Long-term lithium treatment decreased the hyperexcitability observed in the CA3 neurons derived from lithium responders while increasing sodium currents and reducing fast potassium currents. When differentiating this cohort into spinal motor neurons, we did not observe any changes in the excitability of BD motor neurons compared with control motor neurons. CONCLUSIONS: The hyperexcitability of BD neurons is neuronal type specific with the involvement of altered potassium currents that allow for a sustained, continued firing activity.

Dynamical Electrical Complexity Is Reduced during Neuronal Differentiation in Autism Spectrum Disorder.

Neuronal activity can be modeled as a nonlinear dynamical system to yield measures of neuronal state and dysfunction. The electrical recordings of stem cell-derived neurons from individuals with autism spectrum disorder (ASD) and controls were analyzed using minimum embedding dimension (MED) analysis to characterize their dynamical complexity. MED analysis revealed a significant reduction in dynamical complexity in ASD neurons during differentiation, which was correlated to bursting and spike interval measures. MED was associated with clinical endpoints, such as nonverbal intelligence, and was correlated with 53 differentially expressed genes, which were overrepresented with ASD risk genes related to neurodevelopment, cell morphology, and cell migration. Spatiotemporal analysis also showed a prenatal temporal enrichment in cortical and deep brain structures. Together, we present dynamical analysis as a paradigm that can be used to distinguish disease-associated cellular electrophysiological and transcriptional signatures, while taking into account patient variability in neuropsychiatric disorders.

The Consensus Auditory-Perceptual Evaluation of Voice (CAPE-V) Psychometric Characteristics: II European Portuguese Version (II EP CAPE-V).

OBJECTIVE: The purpose of this study was to assure a reliable and valid European Portuguese (EP) version of Consensus Auditory-Perceptual Evaluation of Voice (CAPE-V). This resulted in the second EP version of CAPE-V (II EP CAPE-V), with permission granted by American Speech-Language-Hearing Association. STUDY DESIGN: This is a transversal, observational, descriptive, and comparative study. METHODS: Retranslation of CAPE-V into EP was reviewed by an EP linguistic expert for content validity. A total of 20 subjects: 10 male individuals (mean age = 45) and 10 female individuals (mean age = 43) formed a control group (n = 10) and a dysphonic group (n = 10) were matched by age and gender. All subjects' CAPE-V phonatory tasks were captured with PEYLE PMENI (China) microphone and recorded with TASCAM DR-05 (Tokyo, Japan). Fourteen speech-language pathologists voice experts (>5 years of clinical practice) rated 26 voice samples with 6 repeated samples added for intrarater reliability. All voice samples were heard using AKG K101 (Europe) headphones and were rated in two sessions with a 1-week interval: one with the II EP CAPE-V; and the second with the GRBAS scale to establish for inter-rater reliability and construct and concurrent validity. Statistical analysis for inter-rater reliability was obtained with the intraclass correlation coefficient. Intrarater reliability was obtained with Pearson correlation. Construct and concurrent validity were performed with Student t test and multiserial correlation coefficient, respectively. SPSS 22.0 (IBM Corp, Armonk, NY) and LISREL 8.8 (Scientific Software International, Inc, Chicago, IL) were used with significance level cut-off points: r > 0.70 and α = 0.05. RESULTS: High inter-rater reliability was obtained for all vocal parameters (intraclass correlation coefficient > 0.84) revealing good equivalence. Intrarater reliability was high (r > 0.87) for overall severity, breathiness, and pitch; good (r = 0.73) for strain; and moderate (r > 0.61) for roughness and loudness. These results revealed good reproducibility and stability of the II EP CAPE-V over time. Content validity was assured by an EP linguistic expert. Construct validity was obtained for all vocal parameters (P < 0.05), except for strain (P = 0.52), revealing these were the salient parameters for rating normal and dysphonic voices samples. Concurrent validity between the II EP CAPE-V and the GRBAS scales had strong correlations (r > 0.89) for overall severity/grade, roughness, and breathiness parameters, suggesting both instruments measure the same construct. CONCLUSIONS: The II EP CAPE-V is a reliable and valid instrument for auditory-perceptual evaluation of the EP population, with all psychometric measures assured.

Differentiation of Inflammation-Responsive Astrocytes from Glial Progenitors Generated from Human Induced Pluripotent Stem Cells.

Astrocyte dysfunction and neuroinflammation are detrimental features in multiple pathologies of the CNS. Therefore, the development of methods that produce functional human astrocytes represents an advance in the study of neurological diseases. Here we report an efficient method for inflammation-responsive astrocyte generation from induced pluripotent stem cells (iPSCs) and embryonic stem cells. This protocol uses an intermediate glial progenitor stage and generates functional astrocytes that show levels of glutamate uptake and calcium activation comparable with those observed in human primary astrocytes. Stimulation of stem cell-derived astrocytes with interleukin-1ß or tumor necrosis factor α elicits a strong and rapid pro-inflammatory response. RNA-sequencing transcriptome profiling confirmed that similar gene expression changes occurred in iPSC-derived and primary astrocytes upon stimulation with interleukin-1ß. This protocol represents an important tool for modeling in-a-dish neurological diseases with an inflammatory component, allowing for the investigation of the role of diseased astrocytes in neuronal degeneration.

Altered proliferation and networks in neural cells derived from idiopathic autistic individuals.

Autism spectrum disorders (ASD) are common, complex and heterogeneous neurodevelopmental disorders. Cellular and molecular mechanisms responsible for ASD pathogenesis have been proposed based on genetic studies, brain pathology and imaging, but a major impediment to testing ASD hypotheses is the lack of human cell models. Here, we reprogrammed fibroblasts to generate induced pluripotent stem cells, neural progenitor cells (NPCs) and neurons from ASD individuals with early brain overgrowth and non-ASD controls with normal brain size. ASD-derived NPCs display increased cell proliferation because of dysregulation of a ß-catenin/BRN2 transcriptional cascade. ASD-derived neurons display abnormal neurogenesis and reduced synaptogenesis leading to functional defects in neuronal networks. Interestingly, defects in neuronal networks could be rescued by insulin growth factor 1 (IGF-1), a drug that is currently in clinical trials for ASD. This work demonstrates that selection of ASD subjects based on endophenotypes unraveled biologically relevant pathway disruption and revealed a potential cellular mechanism for the therapeutic effect of IGF-1.

Validade e sensibilidade do texto foneticamente equilibrado para o Português-Europeu ?O Sol? / Validity and sensitivity of the European-Portuguese phonetically balanced text ?O Sol? (The Sun) / La validez y la sensibilidade del texto fonéticamente equilibrado para el Portugués-Europeo ?O Sol?

Face ao crescente índice de envelhecimento e às alterações motoras da fala decorrentes, torna-se emergente a validação de instrumentos de recolha e análise das características da produção dos sons da fala de adultos. Os objetivos deste estudo foram verificar se o texto foneticamente equilibrado (TFE) ?O Sol? contém os fone(ma)s na mesma frequência de ocorrência do discurso espontâneo, recorrendo-se aos corpus PF_fone e FrePOP e determinar a sensibilidade do TFE ?O Sol? às variações dialetais do português-europeu (PE). Uma população de 55 sujeitos normofalantes, com uma média de idades de 29 anos num intervalo entre [18 ? 58] anos, leram em voz alta o TFE ?O Sol?. As amostras foram recolhidas com um gravador Sony linear PCM-D50 (96KHz/24bit). A frequência relativa (Fr) dos fones do TFE ?O Sol? foi comparada com a Fr dos dois corpus de referência, sendo o limiar de aceitação estabelecido, maior ou igual a -0,05. A frequência absoluta (Fa) dos fones do TFE ?O Sol? foi comparada em função do dialeto dos sujeitos. Verificou-se que a Fr de 30 dos 38 fones do TFE ?O Sol? são iguais ou superiores ao limiar de aceitação. A Fa de 6 dos 38 fones foi diferente significativamente (p<0,05) nos três dialetos. Concluindo, o TFE ?O Sol? apresenta todos os fones do PE, sendo 78.9% numa frequência de ocorrência próxima à do discurso espontâneo, estando assim asseguradas as validades de conteúdo, de construção e concorrente. O TFE ?O Sol? pode ser aplicado em sujeitos dos três dialetos do PE por apresentar sensibilidade a estes.(AU)

Validation of data collection and analysis? instruments of adult speech production is an emerging and pertinent research area due to the increase aging rate and motor speech disorders. The objectives of this study were to verify if the phonetically balanced text (PBT) ?O Sol? (The Sun) contains the same phoneme occurrence frequency of the corpus PF_fone and FrePOP and determine the sensitivity of the PBT ?O Sol? for the European-Portuguese (EP) dialectal variations. 55 subjects norm-speakers, with an age mean of 29 yrs and a range between [18-58] yrs, read aloud the PBT ?O Sol? and were recorded with a Sony PCM-D50 Linear DAT recorder (96kHz/24bit). The phone relative frequency (Fr) of the PBT ?O Sol? was compared with the Fr of the two reference corpus. The phone absolute frequency (Fa) of the PBT ?O Sol? was calculated and compared among EP dialects. 30 of the 38 phones of the PBT ?O Sol? presented a Fr equal to or above the acceptance threshold. Six of 38 phones presented significantly different Fa amounts for the three EP dialects (p<.05). In conclusion, the PBT ?O Sol? presented 78.9 % of EP phones with a Fr similar to the spontaneous speech. Its content, construction and concurrent validity was verified. Lastly, the PBT ?O Sol? can be applied to any EP speaking dialects due to its sensitivity to these variations.(AU)

Dada la creciente tasa de envejecimiento y los consecuentes trastornos motores del habla, herramientas de validación para la recolección de datos y análisis de la producción del habla adulta constituyen un campo emergente. Los objetivos de este estudio fueron verificar si el texto fonéticamente equilibrado (TFE) ?O Sol? contiene fone(ma)s en la misma frecuencia de ocurrencia del discurso espontaneo, para lo que se recurrió a los corpus PF_Fone y FrePOP y determinar la sensibilidad del TFE ?O Sol? para las variaciones de dialecto del portugués-europeo (PE). Una población de 55 sujetos hablantes normales, con un pormedio de edad de 29 años y un rango entre los 18-58 años, leieron en voz alta el TFE ?O Sol?. Las muestras se registraron en una grabadora Sony lineal PCM-D50 (96kHz/24bit). La frecuencia relativa (Fr) de los fone(mas) del TFE ?O Sol? fue comparada con la Fr de los dos corpus de referencia, siendo el humblal de acceptación establecido, maior o igual a -0,05. La frecuencia absoluta (Fa) de los fones del TFE ?O Sol? fue comparada de acuerdo con los dialectos de los sujetos. Se verificó que la Fr de 30 de los 38 fones del TFE ?O Sol? son iguales o superiores al umbral de aceptación. La Fa de 6 de los 38 fones fue significativamente diferente (p<0,05) en los tres dialectos. Se concluie, que el TFE ?O Sol? presenta todos los fones del Pe, siendo 78,9% en una frecuencia de ocurrencia próxima a la del discurso espontaneo, estando asi aseguradas las validades de contenido, de construcción y concurrente. El TFE ?O Sol? se puede aplicar a sujetos de los tres dialectos del PE debido a su sensibilidad a estes.(AU)

Validade e sensibilidade do texto foneticamente equilibrado para o português-europeu "O Sol" / Validity and sensitivity of the ruropean-portuguese phonetically balanced text "O Sol" (The Sun) / La validez y la sensibilidade del texto fonéticamente equilibrado para el portugués-europeo "O Sol"

Face ao crescente índice de envelhecimento e às alterações motoras da fala decorrentes, torna-se emergente a validação de instrumentos de recolha e análise das características da produção dos sons da fala de adultos. Os objetivos deste estudo foram verificar se o texto foneticamente equilibrado (TFE) ?O Sol? contém os fone(ma)s na mesma frequência de ocorrência do discurso espontâneo, recorrendo-se aos corpus PF_fone e FrePOP e determinar a sensibilidade do TFE ?O Sol? às variações dialetais do português-europeu (PE). Uma população de 55 sujeitos normofalantes, com uma média de idades de 29 anos num intervalo entre [18 ? 58] anos, leram em voz alta o TFE ?O Sol?. As amostras foram recolhidas com um gravador Sony linear PCM-D50 (96KHz/24bit). A frequência relativa (Fr) dos fones do TFE ?O Sol? foi comparada com a Fr dos dois corpus de referência, sendo o limiar de aceitação estabelecido, maior ou igual a -0,05. A frequência absoluta (Fa) dos fones do TFE ?O Sol? foi comparada em função do dialeto dos sujeitos. Verificou-se que a Fr de 30 dos 38 fones do TFE ?O Sol? são iguais ou superiores ao limiar de aceitação. A Fa de 6 dos 38 fones foi diferente significativamente (p<0,05) nos três dialetos. Concluindo, o TFE ?O Sol? apresenta todos os fones do PE, sendo 78.9% numa frequência de ocorrência próxima à do discurso espontâneo, estando assim asseguradas as validades de conteúdo, de construção e concorrente. O TFE ?O Sol? pode ser aplicado em sujeitos dos três dialetos do PE por apresentar sensibilidade a estes.

Validation of data collection and analysis instruments of adult speech production is an emerging and pertinent research area due to the increase aging rate and motor speech disorders. The objectives of this study were to verify if the phonetically balanced text (PBT) ?O Sol? (The Sun) contains the same phoneme occurrence frequency of the corpus PF_fone and FrePOP and determine the sensitivity of the PBT ?O Sol? for the European-Portuguese (EP) dialectal variations. 55 subjects norm-speakers, with an age mean of 29 yrs and a range between [18-58] yrs, read aloud the PBT ?O Sol? and were recorded with a Sony PCM-D50 Linear DAT recorder (96kHz/24bit). The phone relative frequency (Fr) of the PBT ?O Sol? was compared with the Fr of the two reference corpus. The phone absolute frequency (Fa) of the PBT ?O Sol? was calculated and compared among EP dialects. 30 of the 38 phones of the PBT ?O Sol? presented a Fr equal to or above the acceptance threshold. Six of 38 phones presented significantly different Fa amounts for the three EP dialects (p<.05). In conclusion, the PBT ?O Sol? presented 78.9 % of EP phones with a Fr similar to the spontaneous speech. Its content, construction and concurrent validity was verified. Lastly, the PBT ?O Sol? can be applied to any EP speaking dialects due to its sensitivity to these variations.

Dada la creciente tasa de envejecimiento y los consecuentes trastornos motores del habla, herramientas de validación para la recolección de datos y análisis de la producción del habla adulta constituyen un campo emergente. Los objetivos de este estudio fueron verificar si el texto fonéticamente equilibrado (TFE) ?O Sol? contiene fone(ma)s en la misma frecuencia de ocurrencia del discurso espontaneo, para lo que se recurrió a los corpus PF_Fone y FrePOP y determinar la sensibilidad del TFE ?O Sol? para las variaciones de dialecto del portugués-europeo (PE). Una población de 55 sujetos hablantes normales, con un pormedio de edad de 29 años y un rango entre los 18-58 años, leieron en voz alta el TFE ?O Sol?. Las muestras se registraron en una grabadora Sony lineal PCM-D50 (96kHz/24bit). La frecuencia relativa (Fr) de los fone(mas) del TFE ?O Sol? fue comparada con la Fr de los dos corpus de referencia, siendo el humblal de acceptación establecido, maior o igual a -0,05. La frecuencia absoluta (Fa) de los fones del TFE ?O Sol? fue comparada de acuerdo con los dialectos de los sujetos. Se verificó que la Fr de 30 de los 38 fones del TFE ?O Sol? son iguales o superiores al umbral de aceptación. La Fa de 6 de los 38 fones fue significativamente diferente (p<0,05) en los tres dialectos. Se concluie, que el TFE ?O Sol? presenta todos los fones del Pe, siendo 78,9% en una frecuencia de ocurrencia próxima a la del discurso espontaneo, estando asi aseguradas las validades de contenido, de construcción y concurrente. El TFE ?O Sol? se puede aplicar a sujetos de los tres dialectos del PE debido a su sensibilidad a estes.

Acoustic and phonatory characterization of the Fado voice.

Fado is a Portuguese musical genre, instrumentally accompanied by a Portuguese and an acoustic guitar. Fado singers' voice is perceptually characterized by a low pitch, hoarse, and strained voice. The present research study sketches the acoustic and phonatory profile of the Fado singers' voice. Fifteen Fado singers produced spoken and sung phonatory tasks. For the spoken voice measures, the maximum phonation time and s/z ratio of Fado singers were near the inefficient physiological threshold. Fundamental frequency was higher than that found in nonsingers and lower than that found in Western Classical singers. Jitter and shimmer mean values were higher compared with nonsingers. Harmonic-to-noise ratio (HNR) was similar to the mean values for nonsingers. For the sung voice, jitter was higher compared with Country, Musical Theater, Soul, Jazz, and Western Classical singers and lower than Pop singers. Shimmer mean values were lower than Country, Musical Theater, Pop, Soul, and Jazz singers and higher than Western Classical singers. HNR was similar for Western Classical singers. Maximum phonational frequency range of Fado singers indicated that male and female subjects had a lower range compared with Western Classical singers. Additionally, Fado singers produced vibrato, but singer's formant was rarely produced. These sung voice characteristics could be related with life habits, less/lack of singing training, or could be just a Fado voice characteristic.

Softwares e hardwares de análise acústica da voz e da fala / Softwares and hardwares of acoustic analysis of voice and speech

Este artigo consiste numa revisão sobre as funcionalidades de softwares e hardwares de análise acústica da voz e da fala. Numa primeira fase foi feita a pesquisa e seleção daqueles que o mercado disponibiliza e que são mais utilizados pelos profissionais de saúde destas áreas. Em seguida, reuniram-se dados sobre os parâmetros mais pertinentes, no que respeita à análise da voz e da fala, síntese da fala e intervenção terapêutica. Recolheram-se também informações sobre as especificidades técnicas de cada um. Numa última fase foram reportados os softwares e hardwares mais indicados para as práticas clínica, pedagógica e científica.(AU)

Este artículo es una revisión de la funcionalidad del software y hardware acústico análisis del habla y voz. Inicialmente la investigación se llevó a cabo y seleccionar los que el mercado ofrece y que son utilizados principalmente por programas de salud profesionales en estas áreas. A continuación, los datos recogidos en los parámetros más relevantes en relación con el análisis del enfoque de voz y el habla terapêutica, síntesis del habla y intervención terapéutica. También se recopiló información sobre las características técnicas de cada uno. En la fase final se informó de software y hardware más adecuadopara la práctica clínica, educativa y científi ca.(AU)

This article consists in a review of the software and hardware features of acoustic analysis of voice and speech. Initially, it was reported the systems that are available in the market and the ones that are most commonly used by health care professionals in these areas. Then the most relevant parameters were gathered, for the analysis of voice and speech, speech synthesis and therapeutic intervention. It was also collected information about the technical specifi cations of each. Finally, the software and hardware that best suited pedagogical, clinical and scientific practices were reported.(AU)

Softwares e hardwares de análise acústica da voz e da fala / Softwares and hardwares of acoustic analysis of voice and speech

Este artigo consiste numa revisão sobre as funcionalidades de softwares e hardwares de análise acústica da voz e da fala. Numa primeira fase foi feita a pesquisa e seleção daqueles que o mercado disponibiliza e que são mais utilizados pelos profissionais de saúde destas áreas. Em seguida, reuniram-se dados sobre os parâmetros mais pertinentes, no que respeita à análise da voz e da fala, síntese da fala e intervenção terapêutica. Recolheram-se também informações sobre as especificidades técnicas de cada um. Numa última fase foram reportados os softwares e hardwares mais indicados para as práticas clínica, pedagógica e científica...

Este artículo es una revisión de la funcionalidad del software y hardware acústico análisis del habla y voz. Inicialmente la investigación se llevó a cabo y seleccionar los que el mercado ofrece y que son utilizados principalmente por programas de salud profesionales en estas áreas. A continuación, los datos recogidos en los parámetros más relevantes en relación con el análisis del enfoque de voz y el habla terapêutica, síntesis del habla y intervención terapéutica. También se recopiló información sobre las características técnicas de cada uno. En la fase final se informó de software y hardware más adecuadopara la práctica clínica, educativa y científica...

This article consists in a review of the software and hardware features of acoustic analysis of voice and speech. Initially, it was reported the systems that are available in the market and the ones that are most commonly used by health care professionals in these areas. Then the most relevant parameters were gathered, for the analysis of voice and speech, speech synthesis and therapeutic intervention. It was also collected information about the technical specifi cations of each. Finally, the software and hardware that best suited pedagogical, clinical and scientific practices were reported...

Prevalence of Vocal Problems in Portuguese Primary and Secondary School Level Teachers

This study compared the prevalence of vocal problems in two Portuguese groups: 73 teachers that use their voice as professional tool (teachers' group) and 73 non-voice professionals (control group). It also identified the risk factors that contributed to teachers' group voice problems. A questionnaire was applied to both goups in order to obtain information about vocal health, hygiene and behavior, profes-sional activity and general physical health. Statistical results revealed that the teachers' group presented a higher prevalence of vocal problems than the control group: 52% reported hoarseness, 46.6% vocal fatigue and 45.2% vocal discomfort compared with 31.5%, 20.5 % e 28.7%, respectively. Environmental factors (eg., smoke and cold temperatures), vocal abuse and upper respiratory pathologies (e.g., colds, laryngitis and pharyngitis) seemed to increase teachers' voice disorders (p-value < .05). In conclusion, the absence of vocal pedagogy in the curricular plan of teachers' higher education associated to poor working environmental conditions and professional voice demands explained the higher prevalence of vocal problems in teachers' group.

Este estudo avalia e compara a prevalência dos problemas vocais em dois grupos: 73 professores que usam a sua voz como ferramenta profissional (grupo experimental) e 73 sujeitos que não usam, profis-sionalmente, a voz (grupo de controlo). Foram também identificados os fatores de risco dos problemas vocais. Foi aplicado um questionário a ambos os grupos no sentido de obter informação sobre compor-tamento e higiene vocais, atividade profissional e saúde geral. Os resultados estatísticos revelaram que o grupo dos professores apresentou maior prevalência de problemas vocais que o grupo controle: 52% reportaram rouquidão, 46,6% fadiga vocal e 45,2% desconforto vocal, comparados com 31,5%, 20,5% e 28,7%, respectivamente. Fatores ambientais, tais como fumo e frio, abuso vocal e patologias do trato respiratório superior, tais como constipações, laringites ou faringites foram considerados como fatores de risco dos problemas vocais dos professores (p-value < 0.05). Concluí-se que a ausência de técnica vocal no plano curricular da formação acadêmica de professores, associada às fracas condições ambientais de trabalho e à exigência vocal da atividade profissional justificam a prevalência das perturbações vocais, entre os professores.

Este estudio evalua y compara la prevalencia de los problemas vocales en dos grupos: 73 profe-sores que usan su voz como herramienta profesional (grupo experimental) y 73 sujetos que no usan, profesionalmente, la voz (grupo de control). Han sido también identificados los factores de riesgo de los problemas vocales. Ha sido aplicada una encuesta a ambos grupos para obtener informaciones sobre comportamiento e higiene vocales, actividade profesional y salud general. Los resultados estadísticos han revelado que el grupo de los profesores ha presentado una mayor prevalencia de problemas vocales que el grupo de control: el 52% ha referido ronquera, el 46,6% fatiga vocal y el 45,2% malestar vocal, comparados con el 31,5%, el 20,5% y 28,7%, respectivamente. Factores ambientales, como humo y frio, abuso vocal y patologías del trato respiratorio superior, como constipaciones, laringitis o faringitis han sido considerados como factores de riesgo de los problemas vocales de los profesores (p-value < 0.05). Se concluye que, la ausencia de técnica vocal en el plan curricular de la formación académica de los profesores, asociada a las débiles condiciones ambientales de trabajo y a la exigencia vocal de la actividad profesional, justifican la prevalencia de las perturbaciones vocales, entre los profesores.